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[Clinical pathway for cardiomyopathies: a genetic testing strategy proposed by ANMCO in Tuscany]
Francesca Girolami1, Giuseppe Vergaro2, Maurizio Pieroni3
1S.O.C. Cardiologia, Azienda Ospedaliero-Universitaria Meyer, Firenze.
Insights
Hereditary cardiomyopathies are diverse genetic heart diseases. This guide helps cardiologists use genetic testing effectively for diagnosis and patient care.
Area of Science:
- Cardiology
- Genetics
- Molecular Biology
Background:
- Hereditary cardiomyopathies encompass a range of heterogeneous genetic heart diseases including hypertrophic cardiomyopathy, dilated cardiomyopathy, arrhythmogenic cardiomyopathy, restrictive cardiomyopathy, and left ventricular noncompaction.
- These conditions are a significant cause of cardiac arrest and sudden death, with over 100 associated genes identified.
- Next-generation sequencing (NGS) has advanced genetic testing for cardiomyopathies, enabling simultaneous analysis of numerous genes, reducing costs and time.
Purpose of the Study:
- To provide hospital cardiologists with an operational support tool.
- To enhance the accessibility and appropriateness of genetic testing for patients with suspected or confirmed hereditary cardiomyopathy.
Main Methods:
- The document focuses on the practical application and interpretation of genetic testing results in clinical settings.
- It addresses challenges related to test indications, data interpretation, and clinical implications arising from NGS technology.
Main Results:
- Genetic testing, particularly NGS, has revolutionized the diagnosis of hereditary cardiomyopathies.
- Challenges remain in optimizing test utilization and interpreting complex genetic data for clinical decision-making.
Conclusions:
- This resource aims to bridge the gap between advanced genetic technology and routine clinical practice for hereditary cardiomyopathies.
- Effective utilization of genetic testing is crucial for accurate diagnosis, risk stratification, and management of these severe cardiac conditions.
Abstract:
Hereditary cardiomyopathies, hypertrophic cardiomyopathy, dilated cardiomyopathy, arrhythmogenic cardiomyopathy, restrictive cardiomyopathy and left ventricular noncompaction, are clinically and genetically very heterogeneous diseases, and they represent a frequent cause of cardiac arrest and sudden death. To date, over 100 genes are known to be associated with the onset of cardiomyopathies. Genetic testing is performed by next generation sequencing, a technology that has made it possible to analyze hundreds of genes in many patients simultaneously, shortening costs and execution times. However, with the use of this technology, new problems have arisen regarding the indications for access to the test, the interpretation of the data and the clinical implications of the results.This document aims to represent an operational support tool for hospital cardiologists to make the use of genetic testing more accessible and appropriate for their patients with suspected or ascertained hereditary cardiomyopathy.